| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2777003G>C | CA006239 | KCNQ1 | c.1346G>C (p.Gly449Ala) c.1163G>C (p.Gly388Ala) c.1703G>C (p.Gly568Ala) c.1322G>C (p.Gly441Ala) c.809G>C (p.Gly270Ala) | ClinVar dbSNP |
| 11 | g.2777003G>A | CA379139295 | KCNQ1 | c.1346G>A (p.Gly449Glu) c.1163G>A (p.Gly388Glu) c.1703G>A (p.Gly568Glu) c.1322G>A (p.Gly441Glu) c.809G>A (p.Gly270Glu) | ClinVar dbSNP |
| 11 | g.2777003G= | CA1948314561 | KCNQ1 | c.1346G= (p.Gly449=) c.1163G= (p.Gly388=) c.1703G= (p.Gly568=) c.1322G= (p.Gly441=) c.809G= (p.Gly270=) | dbSNP |